Thyroid carcinomas and Hirschsprung’s disease – 10-year experience with molecular genetic testing of the RET proto-oncogene

Czech version

Authors: B. Bendlová ¹; Š. Dvořáková ¹; E. Václavíková ¹; V. Sýkorová ¹; P. Vlček ²; R. Škába ³
Authors‘ workplace: Endokrinologický ústav, Praha, ředitel doc. MUDr. Vojtěch Hainer, CSc. ¹; Klinika nukleární medicíny a endokrinologie 2. lékařské fakulty UK a FN Motol, Praha, přednosta doc. MUDr. Petr Vlček, CSc. ²; Klinika dětské chirurgie 2. lékařské fakulty UK a FN Motol, Praha, přednosta prof. MUDr. Jiří Šnajdauf, DrSc. ³
Published in: Vnitř Lék 2006; 52(10): 926-934
Category: Review

Overview

Research of the last ten years approved the role of the RET proto–oncogene in the pathogenesis of thyroid cancer such as medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC), multiple endocrine neoplasia type 2 syndromes (MEN 2) and Hirschsprung’s disease that could be associated with MTC or MEN 2. Thanks to the molecular genetic testing, which enables to detect the gene mutations, the course of the disease could be predicted and the mutation carriers among the at-risk persons could be cured at the very early, clinically asymptomatic stage of the disease. Then the prophylactic total thyreoidectomy is recommended. Recently, the physiological role of the RET proto-oncogene in normal cell proliferation, differentiation and survival has been intensively studied. Thanks to this new knowledge the possibility of the gene therapy at the RET signaling cascade level is supposed in the treatment of these patients in near future.

Key words:
medullary thyroid carcinoma – papillary thyroid carcinoma – Hirschsprung’s disease – molecular genetic testing – RET proto-oncogene – gene therapy

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